RHD*08N.01 - RHD*Pseudogene
(ISBT table: RHD negative v4.0)

This entry is an RHD allele.

D pseudogene, D psi, DΨ, RHD*487-19dupl37,609A,654C,667G,674T,807G, RHD*Dpsi (RHD*08N.01),
Download VCF file

Molecular data

Nucleotides: intronic 487>; intronic 609G>A; intronic 654G>C; intronic 667T>G; intronic 674C>T; 807T>G;

Amino acids: M169Lfs*41; 0; 0; 0; 0; Y269*;

Hybrid allele encompassing at least one RHCE exon: no

Comments on the molecular basis:

  • authors hypothesize that this may be the same allele as RHef00779
  • does not list c.609G>A
  • proposes a strategy for the detection of RHef00447 based on a real-time polymerase chain reaction (PCR) assay
  • no mRNA transcripts with the Dpsi sequence
  • polymorphism IVS6+28C>T in all samples

Extracellular position of one or more amino acid substitutions:

  • NA, no RhD protein is expected to be produced.

Splicing:

Unconventional prediction methods:

Phenotype

Main D phenotype: D negative (DEL excluded) (last update: Aug. 9, 2020)
Reports by D phenotype
  • Undetailed ambiguous D phenotype
    • "weak D or questionnable D status"
  • Adsorption-elution was performed, with unexplained DEL phenotype findings; overlaps with 999999988, may overlap with 19243542
  • D negative
    • adsorption-elution was not performed
    • adsorption-elution was performed
    • adsorption-elution was not performed
    • adsorption-elution was not performed
    • adsorption-elution was performed
    • adsorption-elution was not performed
    • study may overlap with 24679597
    • study may overlap with 24656493; adsorption-elution was not performed
    • adsorption-elution was not performed
    • adsorption-elution was not performed
    • adsorption-elution was performed
    • ISBT classification
    • adsorption-elution was performed
    • adsorption-elution was performed
    • adsorption-elution not specified
    • adsorption-elution was not performed
    • adsorption-elution was not performed
    • adsorption-elution was not performed
    • adsorption-elution was not performed
    • adsorption-elution was not performed
    • adsorption-elution was not performed
    • adsorption-elution was performed, results not detailed
  • Adsorption-elution was performed, with unexplained DEL phenotype findings; overlaps with 999999988, may overlap with 19243542
Other RH phenotypes: RH:-2, -3,
  • RH:-2 inferred from the reported RHCE phenotypes of the carriers
  • RH:-3 inferred from the reported RHCE phenotypes of the carriers
Serology with monoclonal anti-D
  • negative, with a panel of 10 monoclonal anti-D
Antigen Density (Ag/RBC)
More phenotype data
Rhesus Similarity Index

Haplotype

Main CcEe phenotype association: ce (last update: Jan. 8, 2021)
Number of samples reported by haplotype
ce Ce cE CE
ce 316 55 8 0
Ce 0 1 0
cE 0 0
CE 0
Reports by CcEe phenotype
  • with ce
    • 7 samples (haplotype given, not complete phenotype) (study may overlap with 24679597)
    17 samples (study may overlap with 24656493)
    26 samples
    1 sample
    46 samples
    8 samples
    2 samples
    13 samples
    14 samples (14 samples, haplotype given, not patient phenotypes)
    3 samples
    78 samples (haplotype given, not complete phenotype)
    28 samples
    10 samples (including one heterozygous with RHef00651)
    63 samples
    0 samples (Figure 2; presented as a general association, no sample count) (Figure 2; presented as a general association, no sample count)
  • with Ccee
    • 1 sample (study may overlap with 24679597)
    11 samples (11 samples, in trans with RHef00605)
    15 samples
    2 samples
    16 samples
    10 samples
  • with ccEe
    • 1 sample
    3 samples
    4 samples
  • with CcEe
    • 1 sample (sample heterozygous with RHef00452)
Main allele association: RHCE*01 or RHCE*01.01 (RHCE*48C)
Reports by allele association
  • RHCE*ce-D(9)-ce
    • 46 samples
  • RHCE*01
    • 1 sample
  • RHCE*01.01 (RHCE*48C)
    • 1 sample
    • 1 sample
  • RHCE*01 or RHCE*01.01 (RHCE*48C)
    • 22 samples
  • RHCE*01.06.01 (RHCE*ceAG) or RHCE*01.04.03 (RHCE*ceAR+455A)
    • 1 sample
  • RHCE*ce or RHCE*ce.16
    • 1 sample
  • RHCE*ceAR or RHCE*ce.16
    • 1 sample
  • RHCE*ceAR or RHCE*ce.16(819A)
    • 1 sample
  • RHCE*ceCF or RHCE*ce.16
    • 1 sample
  • RHCE*ceBI or RHCE*ce.16
    • 1 sample

Alloimmunization

Antibodies in carriers
Antibody specificity: D (RH1)
Summary: D negative, at risk for anti-D (last update: Aug. 25, 2020)
Detailed information
    Singleton BK et al. Blood (2000)
  • Ab specificity: D (RH1)
  • Number (auto- or allo-):
  • Number listed as allo-: 4
  • Number listed as auto-:
  • Number of carriers of the allele assessed: 82 (number not clear)
  • DAT:
  • Autologuous control:
  • Elution:
  • Autoadsorption:
  • Titer:
  • Was anti-LW excluded?:
  • Other antibodies detected:
  • Cross matches (with Ab and RBCs from different partial types):
  • Transfusion history:
  • Pregnancy history:
  • Anti-D Ig history:
  • Context:
  • Hemolytic consequences: 1 case of HDN which required exchange transfusion
  • Comment:
Antibodies in D negative recipients

Alloimmunization in recipients: not expected, see phenotype data

Reports

Summary: common allele, mainly in D negative individuals of African descent, or compatible with such descent (last update: Aug. 9, 2020)
Detailed reports
  • 21/34 donors with D negative phenotype typed for the presence of RHD exon 10 and intron 4 Ghanaian
  • 20/29 donors with D negative phenotype, typed for the presence of RHD exon 10 and intron 4 Black South African
  • 13/54 donors with D negative phenotype, typed for the presence of RHD exon 10 and intron 4 African American
  • 0/13 donors with D positive phenotyope, typed for the presence of RHD exon 10, intron 4 and D psi specific 37 bp insertion Caucasian, reported by a team of authors from UK, USA, South Africa, Ghana, Zimbabwe
  • 13/19 donors with D negative phenotype, typed for the presence of RHD exon 10 and intron 4 Zimbabwean
  • 7/41 donors with D negative phenotype, typed for the presence of RHD exon 10 and intron 4 Mixed race South African
  • 12/95 (heterozygous) donors with D positive phenotype typed for the presence of RHD exon 10, intron 4 and D psi specific 37 bp insertion Black South African (some samples overlap with 9024488)
  • 1/8442 8442 donors with D negative phenotype, screened for presence of the RHD gene in two surveys; 754 donors were C and/or E positive, the rest were ccee phenotype; 5 donors were revealed to be weakly D positive in the German population, Baden-Wurttemberg
  • 7/58 random donors carrying the allele (regardless of the allele in trans) Malian
  • 1/310 (heterozygous with RHef00059) among 1702 samples tested for the combined presence of RHD c.602G and c.667G (700 Dutch White, 310 South African Black, 319 South African Asians, 197 Curacao Black, 176 Ethiopian Black) South African, Black
  • 3/167 (heterozygous with RHef00003) among 1702 samples tested for the combined presence of RHD c.602G and c.667G (700 Dutch White, 310 South African Black, 319 South African Asians, 197 Curacao Black, 176 Ethiopian Black) South African (Black) or Curacao (Black) or Ethiopian (Black) (some samples overlap with 10590079)
  • 9/2012 2012 serologicaly D negative mothers, fetal genotyping showed some RHD gene in 26 in Portuguese population
  • 1/1113 pregnant D negative women tested for fetal non invasive genotyping, RHD exons 5 and 7 in the German population
  • 3/23330 donor samples with D negative phenotype, tested for RHD exons 4, 7 and 10 (94 were PCR positive, 74 weak D or DEL in subsequent serologic analysis) in the Austrian population, Upper Austria
  • 14/96 among almost 3 million blood donations, 621685 had D negative phenotype; 46133 donors were first time donors with D negative phenotype and, when tested, 96 had RHD intron 4 in the German population
  • 31/110 (3 samples heterozygous with RHef00605) random individuals with D negative phenotype Congolese, city of Brazzaville
  • 2/10 (1 heterozygous with RHef00442, 1 with RHef00008) individuals with D positive phenotype Bantu, subgroup Teke, Boma from villages in the north of Léfini river
  • 2/10 (1 heterozygous with RHef00022 and 1 with RHef00023) individuals with D positive phenotype Bantu, subgroup Teke, Wumu from villages in the south of Ngabé city
  • 2/60 (0/21 donors; 2/39 patients, heterozygous with RHef00058) among 60 individuals (21 donors, 39 patients) phenotyped as RH:54 and/or submitted for investigation to determine the RH genotype in the USA population (inferred African American)
  • 1/11 pregnant women with ambiguous fetal genotyping in French population
  • 1/141 donors and patients with ambiguous D phenotype in French population
  • 1/25 (heterozygous with RHef00313) donors with "weak D or questionnable D status" explored by NGS to compare with Sanger sequencing in the Austrian population, Upper Austria
  • 11/239 (+2 heterozygous, one with RHef00452, and one with RHef00658) among 2007 unrelated donors, 239 with D negative phenotype, were tested for RHD Intron 4 and Exon 10 in the Brazilian population, mainly racially mixed non-white skin color individuals, Sao Paulo
  • 2/448 448 donors with D negative phenotype, tested for the presence of RHD exon 10 in the Tunisian population
  • 78/101 among 2450 donors with D negative phenotype, tested for RHD specific polymorphisms (101 were positive for the polymorphisms) Brazilian (Southeast and Northeast Brazil)
  • 2 samples heterozygous with RHef00442 random donors with D positive phenotype, included for the development of a genotyping assay in the Dutch population
  • 46 samples samples positive for this allele, obtained from the screening program of D negative pregnant women in the Dutch population
  • 1 sample (heterozygous with RHef00602) SCD patients with Ab in the USA population, Illinois
  • 12 alleles in 226 patients SCD children systematically genotyped in an alloimmunization study in the USA population, Philadelphia
  • 34/316 (7 homo- or hemizygous, 1 heterozygous with RHef00452, 2 with RHef00018, 2 with RHef00313, 1 with RHef0000067, 1 with RHef00058, 1 with RHef00093, 1 with RHef00020, 18 with RHef00442) 316 (280 D positive and 36 D negative) donors were genotyped African descent (FY:-1,-2) in the French population
  • 1/127 the cohort was composed of 77 Tswa from Congo, 36 Biaka from Central African Republic, 14 Mbuti from Democratic Republic of the Congo Pygmoid Central African
  • 22/220 the cohort was composed of 164 Teke-Congolese (ethnic groups: 60 Akwa, 52 Mbochi, 52 Kuyu) from Congo, 19 Mandenka from Senegal, 25 Yoruba from Nigeria, 12 Bantu from Kenya Nonpygmoid Central African
  • 8/26243 donors with D negative phenotype in three studies with different inclusion criteria in the Swiss population (Zurich and Berne) (study may overlap with 24679597)
  • 17/25370 donors with D negative phenotype, screened for RHD exons 3 or 7, plus 5 and 10 in the Swiss population (study may overlap with 24656493)
  • 8/1314 samples with apparent D negative phenoytpe White Argentineans
  • 1/67 (heterozygous with RHef00442) among 405 random donor samples used to evaluate RHD zygosity tests (35 typed D negative, 303 typed D positive, 67 of the latter had discordant results with different methods and were sequenced) in the Tunisian population
  • 1/3526 donors with D negative phenotype Japanese
  • 118/37782 (1 heterozygous with RHef00448, 1 heterozygous with RHef00660, 13 heterozygous with RHef00452, 6 homozygous) 270 women with variant alleles among 37782 women with D negative phenotype, tested by quantitative fetal RHD genotyping designed to detect RHD exons 5 and 7 in the Dutch population
  • 3/298 pregnant D negative women who underwent non-invasive fetal RHD detection in the Argentinean population (Rosario)
  • 4/400 among random blood and bone marrow donors genotyped for RHD in the Brazilian population (Parana state, Southern Brazil)
  • 1/662 among 662 pregnant patients with apparent D negative phenotype, enroled for fetal genotyping Mexican, in the Australian population
  • 17/405 donors with D negative phenotype, C and/or E and RHD gene present Brazilian
  • 4/289 (3 heterozygous, probably with RHef00442) random donors, see 22021456 for estimation of genomic ancestry in the Brasilian population, Minas Gerais
  • 27/1174 (+ 3 heterozygous for RHef00447 and RHef00452) donors with D negative phenotype United States population (Los Angeles)
  • 2/526 among donors with D negative phenotype, C and/or E positive, tested for presence of the RHD gene in the Argentinean population (Northwestern Argentina)
  • 48/1403 1043 donors with D negative phenotype, among 10417 random donors, were screened for RHD gene in the Brazilian population, Sao Paolo
  • 15/517 in a population of 67428 random donors, 8042 had D negative phenotype, among those, 517 were C and/or E positive and were screened for RHD gene in the Brazilian population (Sao Paolo)
  • 27/18537 18537 donors with D negative phenotype, tested for the presence of RHD DNA sequences, 154 samples were positive for one or several RHD exons in the Swiss population
  • 1/185 RH:–1,–4 or RH:–1,–5 recipients reported by a French lab
  • 1 sample (in trans with RHef00172) in the USA population
  • 13/3147 3147 donors with D negative phenotype, screened for RHD intron 3/intron 4, exon 7 and 3'UTR specific sequences, 36 were positive in Portuguese population (mainly central Portugal)
  • 33/136000 among about 136.000 donors with D negative phenotype, systematically tested for the presence of the RHD gene; the RHD gene was detected in 300 donors in the German population (some samples may overlap with other studies)
  • 8/46,756 first time donors with D negative phenotype, tested for RHD exon 7 and adsorption-elution with a polyclonal anti-D in the German population (Northern) (overlaps with 999999913; some samples may overlap with full publications) (overlaps with 999999988; some samples may overlap with 19243542)
  • 4/4000 D negative repeat donors genotyped for RHD, of which 13 had an RHD allele in Canadian (Quebec) population
  • 7 heterozygotes among 278 samples selected for the development of nonspecific quantitative next-generation sequencing. (non-random samples, may have been reported in other studies)
Allele or phenotype frequency
  • 0.0714 estimated allele frequency from testing 98 random donors (3 had D negative phenotype) Black South African
  • 1/37431 (CI: 1/7032 - 1/733950) estimated allele frequency by testing 8442 donors with D negative phenotype, screened for presence of the RHD gene in two surveys; 754 donors were C and/or E positive, the rest were ccee phenotype; 5 donors were revealed to be weakly D positive in the German population (Baden-Wurttemberg)
  • 0.065 estimated haplotype frequency Malian
  • 1/7776 (CI: 1/3012 - 1/28571) estimated allele frequency in individuals with D negative phenotype in the Austrian population, Upper Austria
  • 0.2056 theoretical allele frequency in individuals with D negative phenotype Congolese (from the city of Brazzaville)
  • 0.0022 estimated allele frequency in individuals with D negative phenotype in the Tunisian population
  • 0.031 allele frequency among 480 African American donors African American (in the USA population)
  • 0.043 allele frequency among 140 SCD patients African American (in the USA population)
  • 0.01 - 0.02 allele frequency from molecular typing of 46 random samples Fulani Malian
  • 0.034 allele frequency from molecular typing of 101 random samples Dogon Malian
  • 0.009 allele frequency in 58 patients with weak D phenotype Brazilian (mixed origin, mainly between African and European descent)
  • 0.014 allele frequency in 106 donors with weak D phenotype Brazilian (mixed origin, mainly between African and European descent)
  • 1/43 (CI: 1/66 - 1/30) estimated allele frequency in donors with D negative phenotype United States population (Los Angeles)

2D diagram

generated using Protter extraintra Met1 Met1 Ser2 Ser2 Ser3 Ser3 Lys4 Lys4 Tyr5 Tyr5 Pro6 Pro6 Arg7 Arg7 Ser8 Ser8 Val9 Val9 Arg10 Arg10 10Arg11 Arg11 Cys12 Cys12 Leu13 Leu13 Pro14 Pro14 Leu15 Leu15 Trp16 Trp16 Ala17 Ala17 Leu18 Leu18 Thr19 Thr19 Leu20 Leu20 20Glu21 Glu21 Ala22 Ala22 Ala23 Ala23 Leu24 Leu24 Ile25 Ile25 Leu26 Leu26 Leu27 Leu27 Phe28 Phe28 Tyr29 Tyr29 Phe30 Phe30 30Phe31 Phe31 Thr32 Thr32 His33 His33 Tyr34 Tyr34 Asp35 Asp35 Ala36 Ala36 Ser37 Ser37 Leu38 Leu38 Glu39 Glu39 Asp40 Asp40 40Gln41 Gln41 Lys42 Lys42 Gly43 Gly43 Leu44 Leu44 Val45 Val45 Ala46 Ala46 Ser47 Ser47 Tyr48 Tyr48 Gln49 Gln49 Val50 Val50 50Gly51 Gly51 Gln52 Gln52 Asp53 Asp53 Leu54 Leu54 Thr55 Thr55 Val56 Val56 Met57 Met57 Ala58 Ala58 Ala59 Ala59 Ile60 Ile60 60Gly61 Gly61 Leu62 Leu62 Gly63 Gly63 Phe64 Phe64 Leu65 Leu65 Thr66 Thr66 Ser67 Ser67 Ser68 Ser68 Phe69 Phe69 Arg70 Arg70 70Arg71 Arg71 His72 His72 Ser73 Ser73 Trp74 Trp74 Ser75 Ser75 Ser76 Ser76 Val77 Val77 Ala78 Ala78 Phe79 Phe79 Asn80 Asn80 80Leu81 Leu81 Phe82 Phe82 Met83 Met83 Leu84 Leu84 Ala85 Ala85 Leu86 Leu86 Gly87 Gly87 Val88 Val88 Gln89 Gln89 Trp90 Trp90 90Ala91 Ala91 Ile92 Ile92 Leu93 Leu93 Leu94 Leu94 Asp95 Asp95 Gly96 Gly96 Phe97 Phe97 Leu98 Leu98 Ser99 Ser99 Gln100 Gln100 100Phe101 Phe101 Pro102 Pro102 Ser103 Ser103 Gly104 Gly104 Lys105 Lys105 Val106 Val106 Val107 Val107 Ile108 Ile108 Thr109 Thr109 Leu110 Leu110 110Phe111 Phe111 Ser112 Ser112 Ile113 Ile113 Arg114 Arg114 Leu115 Leu115 Ala116 Ala116 Thr117 Thr117 Met118 Met118 Ser119 Ser119 Ala120 Ala120 120Leu121 Leu121 Ser122 Ser122 Val123 Val123 Leu124 Leu124 Ile125 Ile125 Ser126 Ser126 Val127 Val127 Asp128 Asp128 Ala129 Ala129 Val130 Val130 130Leu131 Leu131 Gly132 Gly132 Lys133 Lys133 Val134 Val134 Asn135 Asn135 Leu136 Leu136 Ala137 Ala137 Gln138 Gln138 Leu139 Leu139 Val140 Val140 140Val141 Val141 Met142 Met142 Val143 Val143 Leu144 Leu144 Val145 Val145 Glu146 Glu146 Val147 Val147 Thr148 Thr148 Ala149 Ala149 Leu150 Leu150 150Gly151 Gly151 Asn152 Asn152 Leu153 Leu153 Arg154 Arg154 Met155 Met155 Val156 Val156 Ile157 Ile157 Ser158 Ser158 Asn159 Asn159 Ile160 Ile160 160Phe161 Phe161 Asn162 Asn162 Thr163 Thr163 Asp164 Asp164 Tyr165 Tyr165 His166 His166 Met167 Met167 Asn168 Asn168 Met169 Met169 Met170 Met170 170His171 His171 Ile172 Ile172 Tyr173 Tyr173 Val174 Val174 Phe175 Phe175 Ala176 Ala176 Ala177 Ala177 Tyr178 Tyr178 Phe179 Phe179 Gly180 Gly180 180Leu181 Leu181 Ser182 Ser182 Val183 Val183 Ala184 Ala184 Trp185 Trp185 Cys186 Cys186 Leu187 Leu187 Pro188 Pro188 Lys189 Lys189 Pro190 Pro190 190Leu191 Leu191 Pro192 Pro192 Glu193 Glu193 Gly194 Gly194 Thr195 Thr195 Glu196 Glu196 Asp197 Asp197 Lys198 Lys198 Asp199 Asp199 Gln200 Gln200 200Thr201 Thr201 Ala202 Ala202 Thr203 Thr203 Ile204 Ile204 Pro205 Pro205 Ser206 Ser206 Leu207 Leu207 Ser208 Ser208 Ala209 Ala209 Met210 Met210 210Leu211 Leu211 Gly212 Gly212 Ala213 Ala213 Leu214 Leu214 Phe215 Phe215 Leu216 Leu216 Trp217 Trp217 Met218 Met218 Phe219 Phe219 Trp220 Trp220 220Pro221 Pro221 Ser222 Ser222 Phe223 Phe223 Asn224 Asn224 Ser225 Ser225 Ala226 Ala226 Leu227 Leu227 Leu228 Leu228 Arg229 Arg229 Ser230 Ser230 230Pro231 Pro231 Ile232 Ile232 Glu233 Glu233 Arg234 Arg234 Lys235 Lys235 Asn236 Asn236 Ala237 Ala237 Val238 Val238 Phe239 Phe239 Asn240 Asn240 240Thr241 Thr241 Tyr242 Tyr242 Tyr243 Tyr243 Ala244 Ala244 Val245 Val245 Ala246 Ala246 Val247 Val247 Ser248 Ser248 Val249 Val249 Val250 Val250 250Thr251 Thr251 Ala252 Ala252 Ile253 Ile253 Ser254 Ser254 Gly255 Gly255 Ser256 Ser256 Ser257 Ser257 Leu258 Leu258 Ala259 Ala259 His260 His260 260Pro261 Pro261 Gln262 Gln262 Gly263 Gly263 Lys264 Lys264 Ile265 Ile265 Ser266 Ser266 Lys267 Lys267 Thr268 Thr268 Tyr269 Tyr269 Val270 Val270 270His271 His271 Ser272 Ser272 Ala273 Ala273 Val274 Val274 Leu275 Leu275 Ala276 Ala276 Gly277 Gly277 Gly278 Gly278 Val279 Val279 Ala280 Ala280 280Val281 Val281 Gly282 Gly282 Thr283 Thr283 Ser284 Ser284 Cys285 Cys285 His286 His286 Leu287 Leu287 Ile288 Ile288 Pro289 Pro289 Ser290 Ser290 290Pro291 Pro291 Trp292 Trp292 Leu293 Leu293 Ala294 Ala294 Met295 Met295 Val296 Val296 Leu297 Leu297 Gly298 Gly298 Leu299 Leu299 Val300 Val300 300Ala301 Ala301 Gly302 Gly302 Leu303 Leu303 Ile304 Ile304 Ser305 Ser305 Val306 Val306 Gly307 Gly307 Gly308 Gly308 Ala309 Ala309 Lys310 Lys310 310Tyr311 Tyr311 Leu312 Leu312 Pro313 Pro313 Gly314 Gly314 Cys315 Cys315 Cys316 Cys316 Asn317 Asn317 Arg318 Arg318 Val319 Val319 Leu320 Leu320 320Gly321 Gly321 Ile322 Ile322 Pro323 Pro323 His324 His324 Ser325 Ser325 Ser326 Ser326 Ile327 Ile327 Met328 Met328 Gly329 Gly329 Tyr330 Tyr330 330Asn331 Asn331 Phe332 Phe332 Ser333 Ser333 Leu334 Leu334 Leu335 Leu335 Gly336 Gly336 Leu337 Leu337 Leu338 Leu338 Gly339 Gly339 Glu340 Glu340 340Ile341 Ile341 Ile342 Ile342 Tyr343 Tyr343 Ile344 Ile344 Val345 Val345 Leu346 Leu346 Leu347 Leu347 Val348 Val348 Leu349 Leu349 Asp350 Asp350 350Thr351 Thr351 Val352 Val352 Gly353 Gly353 Ala354 Ala354 Gly355 Gly355 Asn356 Asn356 Gly357 Gly357 Met358 Met358 Ile359 Ile359 Gly360 Gly360 360Phe361 Phe361 Gln362 Gln362 Val363 Val363 Leu364 Leu364 Leu365 Leu365 Ser366 Ser366 Ile367 Ile367 Gly368 Gly368 Glu369 Glu369 Leu370 Leu370 370Ser371 Ser371 Leu372 Leu372 Ala373 Ala373 Ile374 Ile374 Val375 Val375 Ile376 Ile376 Ala377 Ala377 Leu378 Leu378 Met379 Met379 Ser380 Ser380 380Gly381 Gly381 Leu382 Leu382 Leu383 Leu383 Thr384 Thr384 Gly385 Gly385 Leu386 Leu386 Leu387 Leu387 Leu388 Leu388 Asn389 Asn389 Leu390 Leu390 390Lys391 Lys391 Ile392 Ile392 Trp393 Trp393 Lys394 Lys394 Ala395 Ala395 Pro396 Pro396 His397 His397 Glu398 Glu398 Ala399 Ala399 Lys400 Lys400 400Tyr401 Tyr401 Phe402 Phe402 Asp403 Asp403 Asp404 Asp404 Gln405 Gln405 Val406 Val406 Phe407 Phe407 Trp408 Trp408 Lys409 Lys409 Phe410 Phe410 410Pro411 Pro411 His412 His412 Leu413 Leu413 Ala414 Ala414 Val415 Val415 Gly416 Gly416 Phe417 Phe417 417 MSSKYPRSVRRCLPLWALTLEAALILLFYFFTHYDASLEDQKGLVASYQVGQDLTVMAAIGLGFLTSSFRRHSWSSVAFNLFMLALGVQWAILLDGFLSQFPSGKVVITLFSIRLATMSALSVLISVDAVLGKVNLAQLVVMVLVEVTALGNLRMVISNIFNTDYHMNMMHIYVFAAYFGLSVAWCLPKPLPEGTEDKDQTATIPSLSAMLGALFLWMFWPSFNSALLRSPIERKNAVFNTYYAVAVSVVTAISGSSLAHPQGKISKTYVHSAVLAGGVAVGTSCHLIPSPWLAMVLGLVAGLISVGGAKYLPGCCNRVLGIPHSSIMGYNFSLLGLLGEIIYIVLLVLDTVGAGNGMIGFQVLLSIGELSLAIVIALMSGLLTGLLLNLKIWKAPHEAKYFDDQVFWKFPHLAVGF MSSKYPRSVRRCLPLWALTLEAALILLFYFFTHYDASLEDQKGLVASYQVGQDLTVMAAIGLGFLTSSFRRHSWSSVAFNLFMLALGVQWAILLDGFLSQFPSGKVVITLFSIRLATMSALSVLISVDAVLGKVNLAQLVVMVLVEVTALGNLRMVISNIFNTDYHMNMMHIYVFAAYFGLSVAWCLPKPLPEGTEDKDQTATIPSLSAMLGALFLWMFWPSFNSALLRSPIERKNAVFNTYYAVAVSVVTAISGSSLAHPQGKISKTYVHSAVLAGGVAVGTSCHLIPSPWLAMVLGLVAGLISVGGAKYLPGCCNRVLGIPHSSIMGYNFSLLGLLGEIIYIVLLVLDTVGAGNGMIGFQVLLSIGELSLAIVIALMSGLLTGLLLNLKIWKAPHEAKYFDDQVFWKFPHLAVGF MSSKYPRSVRRCLPLWALTLEAALILLFYFFTHYDASLEDQKGLVASYQVGQDLTVMAAIGLGFLTSSFRRHSWSSVAFNLFMLALGVQWAILLDGFLSQFPSGKVVITLFSIRLATMSALSVLISVDAVLGKVNLAQLVVMVLVEVTALGNLRMVISNIFNTDYHMNMMHIYVFAAYFGLSVAWCLPKPLPEGTEDKDQTATIPSLSAMLGALFLWMFWPSFNSALLRSPIERKNAVFNTYYAVAVSVVTAISGSSLAHPQGKISKTYVHSAVLAGGVAVGTSCHLIPSPWLAMVLGLVAGLISVGGAKYLPGCCNRVLGIPHSSIMGYNFSLLGLLGEIIYIVLLVLDTVGAGNGMIGFQVLLSIGELSLAIVIALMSGLLTGLLLNLKIWKAPHEAKYFDDQVFWKFPHLAVGF MSSKYPRSVRRCLPLWALTLEAALILLFYFFTHYDASLEDQKGLVASYQVGQDLTVMAAIGLGFLTSSFRRHSWSSVAFNLFMLALGVQWAILLDGFLSQFPSGKVVITLFSIRLATMSALSVLISVDAVLGKVNLAQLVVMVLVEVTALGNLRMVISNIFNTDYHMNMMHIYVFAAYFGLSVAWCLPKPLPEGTEDKDQTATIPSLSAMLGALFLWMFWPSFNSALLRSPIERKNAVFNTYYAVAVSVVTAISGSSLAHPQGKISKTYVHSAVLAGGVAVGTSCHLIPSPWLAMVLGLVAGLISVGGAKYLPGCCNRVLGIPHSSIMGYNFSLLGLLGEIIYIVLLVLDTVGAGNGMIGFQVLLSIGELSLAIVIALMSGLLTGLLLNLKIWKAPHEAKYFDDQVFWKFPHLAVGF

Structure mapping

Movement    Mouse Input    Touch Input
RotationPrimary Mouse ButtonSingle touch
TranslationMiddle Mouse Button or Ctrl+PrimaryTriple touch
ZoomScroll Wheel or Second Mouse Button or Shift+PrimaryPinch (double touch)
SlabCtrl+SecondNot Available

Links

The Human RhesusBase
Genbank:
Erythrogene

References

  1. International Society of Blood Transfusion et al. International Society of Blood Transfusion (ISBT) allele table Online ressource, 1935. — Online ressource — [RHeference]
  2. Singleton BK et al. The presence of an RHD pseudogene containing a 37 base pair duplication and a nonsense mutation in africans with the Rh D-negative blood group phenotype. Blood, 2000. [Citation] [RHeference]
  3. Wagner FF et al. RHD positive haplotypes in D negative Europeans. BMC Genet, 2001. [Citation] [RHeference]
  4. Ekman GC et al. Rh genotyping: avoiding false-negative and false-positive results among individuals of African ancestry. Am J Hematol, 2002. [Citation] [RHeference]
  5. Wagner FF et al. The DAU allele cluster of the RHD gene. Blood, 2002. [Citation] [RHeference]
  6. Rodrigues A et al. Presence of the RHD pseudogene and the hybrid RHD-CE-D(s) gene in Brazilians with the D-negative phenotype. Braz J Med Biol Res, 2002. [Citation] [RHeference]
  7. Wagner FF et al. RHD allele distribution in Africans of Mali. BMC Genet, 2003. [Citation] [RHeference]
  8. Grootkerk-Tax MG et al. RHD(T201R, F223V) cluster analysis in five different ethnic groups and serologic characterization of a new Ethiopian variant DARE, the DIII type 6, and the RHD(F223V). Transfusion, 2006. [Citation] [RHeference]
  9. Flegel WA et al. How I manage donors and patients with a weak D phenotype. Curr Opin Hematol, 2006. [Citation] [RHeference]
  10. Pereira JC et al. Prenatal determination of the fetal RhD blood group by multiplex PCR: a 7-year Portuguese experience. Prenat Diagn, 2007. [Citation] [RHeference]
  11. Müller SP et al. The determination of the fetal D status from maternal plasma for decision making on Rh prophylaxis is feasible. Transfusion, 2008. [Citation] [RHeference]
  12. Flegel WA et al. Six years' experience performing RHD genotyping to confirm D- red blood cell units in Germany for preventing anti-D immunizations. Transfusion, 2009. [Citation] [RHeference]
  13. Touinssi M et al. Molecular analysis of inactive and active RHD alleles in native Congolese cohorts. Transfusion, 2009. [Citation] [RHeference]
  14. Flegel WA et al. D variants at the RhD vestibule in the weak D type 4 and Eurasian D clusters. Transfusion, 2009. [Citation] [RHeference]
  15. Polin H et al. Identification of RHD alleles with the potential of anti-D immunization among seemingly D- blood donors in Upper Austria. Transfusion, 2009. [Citation] [RHeference]
  16. J. Pereira et al. RHD Null Alleles in the Portuguese Population Transfusion Medicine, 2009. — Abstract — [RHeference]
  17. Westhoff CM et al. DIIIa and DIII Type 5 are encoded by the same allele and are associated with altered RHCE*ce alleles: clinical implications. Transfusion, 2010. [Citation] [RHeference]
  18. Silvy M et al. Weak D and DEL alleles detected by routine SNaPshot genotyping: identification of four novel RHD alleles. Transfusion, 2011. [Citation] [RHeference]
  19. Stabentheiner S et al. Overcoming methodical limits of standard RHD genotyping by next-generation sequencing. Vox Sang, 2011. [Citation] [RHeference]
  20. Wagner FF and Flegel WA et al. The Human RhesusBase Online ressource, 2011. — Online ressource — [RHeference]
  21. Szulman A et al. Investigation of pseudogenes RHDΨ and RHD-CE-D hybrid gene in D-negative blood donors by the real time PCR method. Transfus Apher Sci, 2012. [Citation] [RHeference]
  22. Wagner FF et al. RHD PCR of blood donors in Northern Germany: use of adsorption/elution to determine D antigen status Vox Sanguinis, 2012. — Abstract — [RHeference]
  23. Cruz BR et al. RHD alleles in Brazilian blood donors with weak D or D-negative phenotypes. Transfus Med, 2012. [Citation] [RHeference]
  24. Moussa H et al. Molecular background of D-negative phenotype in the Tunisian population. Transfus Med, 2012. [Citation] [RHeference]
  25. F F Wagner et al. Single Adsorption / Elution with Anti-D May Be Insufficient to Determine the D Antigen Status of Very Weak DEL Alleles Transfusion, 2012. — Abstract — [RHeference]
  26. Mota M et al. RHD allelic identification among D-Brazilian blood donors as a routine test using pools of DNA. J Clin Lab Anal, 2012. [Citation] [RHeference]
  27. St-Louis R et al. DEL Blood donors alloimmunised patients: the Canadian experience Vox Sanguinis, 2012. — Abstract — [RHeference]
  28. Lejon Crottet S et al. Serologic and molecular investigations of DAR1 (weak D Type 4.2), DAR1.2, DAR1.3, DAR2 (DARE), and DARA. Transfusion, 2013. [Citation] [RHeference]
  29. Granier T et al. A comprehensive survey of both RHD and RHCE allele frequencies in sub-Saharan Africa. Transfusion, 2013. [Citation] [RHeference]
  30. Daniels G et al. Variants of RhD--current testing and clinical consequences. Br J Haematol, 2013. [Citation] [RHeference]
  31. Haer-Wigman L et al. RHD and RHCE variant and zygosity genotyping via multiplex ligation-dependent probe amplification. Transfusion, 2013. [Citation] [RHeference]
  32. Chou ST et al. High prevalence of red blood cell alloimmunization in sickle cell disease despite transfusion from Rh-matched minority donors. Blood, 2013. [Citation] [RHeference]
  33. Fichou Y et al. A convenient qualitative and quantitative method to investigate RHD-RHCE hybrid genes. Transfusion, 2013. [Citation] [RHeference]
  34. O'Suoji C et al. Alloimmunization in sickle cell anemia in the era of extended red cell typing. Pediatr Blood Cancer, 2013. [Citation] [RHeference]
  35. Kappler-Gratias S et al. Systematic RH genotyping and variant identification in French donors of African origin. Blood Transfus, 2014. [Citation] [RHeference]
  36. Trucco Boggione C et al. Molecular structures identified in serologically D- samples of an admixed population. Transfusion, 2014. [Citation] [RHeference]
  37. Gowland P et al. Molecular RHD screening of RhD negative donors can replace standard serological testing for RhD negative donors. Transfus Apher Sci, 2014. [Citation] [RHeference]
  38. Arnoni CP et al. How do we identify RHD variants using a practical molecular approach? Transfusion, 2014. [Citation] [RHeference]
  39. Crottet SL et al. Implementation of a mandatory donor RHD screening in Switzerland. Transfus Apher Sci, 2014. [Citation] [RHeference]
  40. Reid ME et al. Genomic analyses of RH alleles to improve transfusion therapy in patients with sickle cell disease. Blood Cells Mol Dis, 2014. [Citation] [RHeference]
  41. Ba A et al. RH diversity in Mali: characterization of a new haplotype RHD*DIVa/RHCE*ceTI(D2). Transfusion, 2015. [Citation] [RHeference]
  42. Kacem N et al. Paternal RHD zygosity determination in Tunisians: evaluation of three molecular tests. Blood Transfus, 2015. [Citation] [RHeference]
  43. Ogasawara K et al. Molecular basis for D- Japanese: identification of novel DEL and D- alleles. Vox Sang, 2015. [Citation] [RHeference]
  44. Srivastava K et al. The DAU cluster: a comparative analysis of 18 RHD alleles, some forming partial D antigens. Transfusion, 2016. [Citation] [RHeference]
  45. Stegmann TC et al. Frequency and characterization of known and novel RHD variant alleles in 37 782 Dutch D-negative pregnant women. Br J Haematol, 2016. [Citation] [RHeference]
  46. C Henny et al. Impact of the mandatory donor RHD screening in Switzerland Vox Sanguinis, 2016. — Abstract — [RHeference]
  47. Zacarias JM et al. Frequency of RHD variants in Brazilian blood donors from Parana State, Southern Brazil. Transfus Apher Sci, 2016. [Citation] [RHeference]
  48. Chou ST et al. Whole-exome sequencing for RH genotyping and alloimmunization risk in children with sickle cell anemia. Blood Adv, 2017. [Citation] [RHeference]
  49. Boggione CT et al. Genotyping approach for non-invasive foetal RHD detection in an admixed population. Blood Transfus, 2017. [Citation] [RHeference]
  50. Hyland CA et al. Non-invasive fetal RHD genotyping for RhD negative women stratified into RHD gene deletion or variant groups: comparative accuracy using two blood collection tube types. Pathology, 2017. [Citation] [RHeference]
  51. Dezan MR et al. RHD and RHCE genotyping by next-generation sequencing is an effective strategy to identify molecular variants within sickle cell disease patients. Blood Cells Mol Dis, 2017. [Citation] [RHeference]
  52. S Vege et al. Serologic Characterization of D Antigen Expression Encoded By Two Reported RHD Alleles: Implications for Transfusion and Pregnancy Transfusion, 2017. — Abstract — [RHeference]
  53. Jérôme Babinet et al. Erratum à l’article : « Résumés des Posters » [Transfus. Clin. Biol. 24 (2017) 3S] Transfusion Clinique et Biologique, 2018. — Abstract — [RHeference]
  54. Dezan MR et al. Evaluation of the applicability and effectiveness of a molecular strategy for identifying weak D and DEL phenotype among D- blood donors of mixed origin exhibiting high frequency of RHD*Ψ. Transfusion, 2018. [Citation] [RHeference]
  55. Dezan MR et al. High frequency of variant RHD genotypes among donors and patients of mixed origin with serologic weak-D phenotype. J Clin Lab Anal, 2018. [Citation] [RHeference]
  56. Perez-Alvarez I et al. RHD genotyping of serologic RhD-negative blood donors in a hospital-based blood donor center. Transfusion, 2019. [Citation] [RHeference]
  57. Wagner F. et al. Results of more than ten years testing of RhD negative first time donors by RHD PCR Transfus Med Hemother, 2019. — Abstract — [RHeference]
  58. de Paula Vendrame TA et al. Characterization of RHD alleles present in serologically RHD-negative donors determined by a sensitive microplate technique. Vox Sang, 2019. [Citation] [RHeference]
  59. Trucco Boggione C et al. Characterization of RHD locus polymorphism in D negative and D variant donors from Northwestern Argentina. Transfusion, 2019. [Citation] [RHeference]
  60. Silva-Malta MCF et al. Molecular analysis of the RHD pseudogene by duplex real-time polymerase chain reaction. Transfus Med, 2019. [Citation] [RHeference]
  61. Floch A et al. Comment from Rheference Online ressource, 2020. — Online ressource — [RHeference]
  62. Stef M et al. RH genotyping by nonspecific quantitative next-generation sequencing. Transfusion, 2020. [Citation] [RHeference]

Last update: Jan. 8, 2021